Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the FECH gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of EPP complicated with thyrotoxicosis and liver dysfunction which is a rare condition. The patient's liver function improved after liver protection treatment, her thyroid function returned to normal, and her EPP symptoms improved significantly. Moreover, the c.286C>T gene mutation may be the pathogenic locus of EPP. For patients with abnormal liver function, the possibility of EPP should be considered after the common causes are excluded, and FECH gene detection should be done to confirm the diagnosis in time. When EPP is associated with thyrotoxicosis and liver dysfunction, priority may be given to hepatoprotective therapy.
红细胞生成性原卟啉病(erythropoietic protoporphyria，EPP)是一种亚铁螯合酶(ferrochelatase，FECH)基因编码的FECH缺乏引起的遗传性代谢性疾病，以常染色体隐性遗传方式遗传。EPP通常在婴儿期或幼儿期暴露于阳光后产生急性疼痛光敏性，肝功能衰竭是最严重的并发症。本文报告１例成年女性EPP合并甲状腺功能亢进症(以下简称“甲亢”)及肝功能障碍的病例，临床上较为罕见。患者经保肝治疗后肝功能改善，甲状腺功能恢复正常，EPP症状明显改善。此外，c.286C>T基因突变可能是EPP的致病位点。对于肝功能异常患者，在排除常见病因后，应考虑EPP的可能，及时完善FECH基因检测确诊。当EPP合并甲亢和肝功能障碍时，可优先考虑保肝治疗。.
Keywords: erythropoietic protoporphyria; liver dysfunction; thyrotoxicosis.